# Persistent Beetroot Colored Urine in a Three‐Year‐Old Child: A Case Report

## TL;DR

A rare case of childhood porphyria cutanea tarda is reported, highlighting unusual symptoms like beetroot-colored urine leading to diagnosis.

## Contribution

Reports two pediatric cases of PCT diagnosed via beetroot-colored urine, not cutaneous symptoms, and highlights genetic factors.

## Key findings

- Only five pediatric PCT cases were diagnosed among ~1400 total cases at the Porphyria Center Sweden.
- All children had pathogenic UROD gene variants and were homozygous for hemochromatosis.
- Beetroot-colored urine led to PCT suspicion in two cases without cutaneous symptoms.

## Abstract

Clinically manifest porphyria cutanea tarda (PCT) is a rare condition in childhood; however, several cases have been reported in the literature and at our centre. Porphyria Center Sweden is a national knowledge centre, and since 1987, we have diagnosed approximately 1400 new cases of manifest PCT, of which only five have been children. All children have been identified as heterozygous carriers of a pathogenic UROD gene variant and homozygous for hemochromatosis. In our experience, the diagnosis of children with PCT has been delayed, even in the presence of cutaneous symptoms, without known family history. In this case report, and in another child from our centre, the disease has been suspected due to reddish discolored urine in the absence of cutaneous symptoms. In these two cases, the mothers associated the beetroot red urine with known cases of PCT in the family history. The remaining three cases documented in this report were diagnosed based on cutaneous symptoms.

Clinically manifest porphyria cutanea tarda (PCT) is rare in children. Of ~1400 cases diagnosed at Porphyria Center Sweden, only five were children, all with pathogenic UROD variants and HFE homozygous. Diagnosis is often delayed; in our case, beetroot‐red urine prompted suspicion despite the absence of cutaneous symptoms.